Varaico: Literature-Extracted Genetic Variants

Gene:MLN
Variant:p.K48R

MLN

454 papers

RefSeq Summary

This gene encodes a small peptide hormone that is secreted by cells of the small intestine to regulate gastrointestinal contractions and motility. Proteolytic processing of the secreted protein produc...

Pfam Domains

Motilin_ghrelinaa 27–53UCSCMotilin/ghrelin
Motilin_assocaa 61–115UCSCMotilin/ghrelin-associated peptide

Gene Aliases

HGNC Name

motilin

HGNC Alias Name

prepromotilin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002418.3
p.K48R
c.143A>G
Surrounding Variants
2 papers
NM_002418.3
p.K48K
c.144G>A
3 papers
NM_002418.3
p.K49I
c.146A>T
1 paper
NM_002418.3
p.Q47Fs
c.139delinsTTFs
1 paper
NM_002418.3
p.K49N
c.147A>T
2 papers
NM_002418.3
p.S50A
c.148T>G
1 paper
NM_002418.3
p.S50S
c.150C>T
1 paper
NM_002418.3
p.K45R
c.134A>G
2 papers
NM_002418.3
p.K45E
c.133A>G
1 paper
NM_002418.3
p.N44S
c.131A>G
1 paper
NM_002418.3
p.N44T
c.131A>C
1 paper
NM_002418.3
p.S52R
c.156T>A
1 paper
NM_002418.3
p.V53L
c.157G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."